However, other disorders, such as the tyrosinemias and certain organic acidemias such as MMA and cobalamin disorders, have a substantially higher false-positive rate (~0.2%).
Diagnosis of organic acidemias by gas chromatography-mass spectrometry.
Prenatal diagnosis of organic acidemias based on amniotic fluid levels of acylcarnitines.
Organic acidemia disorders are highly manageable with diet and medication.
Kathy Stagni can be contacted at: Organic Acidemia Association Web site: http://www.oaanews.org Phone: (763) 559-1797
Moreover, the technique has been successfully applied to prenatal diagnosis of several organic acidemias from amniotic fluid and to postmortem diagnosis from bile spots [35, 36].
The parameters to be used by the algorithm were selected by comparing the metabolic profiles from several known cases of organic acidemias and amino acid disorders with the profiles from the control samples.
However, studies documenting the practical challenges in diagnosis of IMDs especially for organic acidemias are sparse.
Diagnosis of organic acidemias by gaschromatography-massspectrometry.
The group of
organic acidemias including methlymalonic, propionic and isovaleric acidemias are among the important causes for wide anion gap metabolic acidosis.
In reported results on screening of
organic acidemias, the incidence ranges between 4% (7) and 6.3% (13).